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Results 1-10 of 16 (Search time: 0.003 seconds).
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Issue Date
Title
Author(s)
2017
Knockout of the epilepsy gene Depdc5 in mice causes severe embryonic dysmorphology with hyperactivity of mTORC1 signalling
Hughes, J.
;
Dawson, R.
;
Tea, M.
;
McAninch, D.
;
Piltz, S.
;
Jackson, D.
;
Stewart, L.
;
Ricos, M.
;
Dibbens, L.
;
Harvey, N.
;
Thomas, P.
2005
SCN1A mutations and epiliepsy
Mulley, J.
;
Scheffer, I.
;
Petrou, S.
;
Dibbens, L.
;
Berkovic, S.
;
Harkin, L.
2014
Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations
Scheffer, I.
;
Heron, S.
;
Regan, B.
;
Mandelstam, S.
;
Crompton, D.
;
Hodgson, B.
;
Licchetta, L.
;
Provini, F.
;
Bisulli, F.
;
Vadlamudi, L.
;
Gecz, J.
;
Connelly, A.
;
Tinuper, P.
;
Ricos, M.
;
Berkovic, S.
;
Dibbens, L.
2011
A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia
Corbett, M.
;
Schwake, M.
;
Bahlo, M.
;
Dibbens, L.
;
Lin, M.
;
Gandolfo, L.
;
Vears, D.
;
O'Sullivan, J.
;
Robertson, T.
;
Bayly, M.
;
Gardner, A.
;
Vlaar, A.
;
Korenke, G.
;
Bloem, B.
;
de Coo, I.
;
Verhagen, J.
;
Lehesjoki, A.
;
Gecz, J.
;
Berkovic, S.
2010
A focal Eeilepsy and intellectual disability syndrome is due to a mutation in TBC1D24
Bahlo, M.
;
Jolly, L.
;
Afawi, Z.
;
Gardner, A.
;
Oliver, K.
;
Tan, S.
;
Coffey, A.
;
Mulley, J.
;
Dibbens, L.
;
Simri, W.
;
Shalata, A.
;
Kivity, S.
;
Jackson, G.
;
Berkovic, S.
;
Gecz, J.
;
Corbett, M.
2004
Genetic architecture of idiopathic generalized epilepsy: Clinical genetic analysis of 55 multiplex families
Marini, C.
;
Scheffer, I.
;
Crossland, K.
;
Grinton, B.
;
Phillips, F.
;
McMahon, J.
;
Turner, S.
;
Dean, J.
;
Kivity, S.
;
Mazarib, A.
;
Neufeld, M.
;
Korczyn, A.
;
Harkin, L.
;
Dibbens, L.
;
Wallace, R.
;
Mulley, J.
;
Berkovic, S.
2013
Mutations in DEPDC5 cause familial focal epilepsy with variable foci
Dibbens, L.
;
de Vries, B.
;
Donatello, S.
;
Heron, S.
;
Hodgson, B.
;
Chintawar, S.
;
Crompton, D.
;
Hughes, J.
;
Bellows, S.
;
Klein, K.
;
Callenbach, P.
;
Corbett, M.
;
Gardner, A.
;
Kivity, S.
;
Iona, X.
;
Regan, B.
;
Weller, C.
;
Crimmins, D.
;
O'Brien, T.
;
Guerrero-Lopez, R.
;
et al.
2001
Neuronal sodium-channel a1-subunit mutations in generalized epilepsy with febrile seizures plus
Wallace, R.
;
Scheffer, I.
;
Barnett, S.
;
Richards, M.
;
Dibbens, L.
;
Desai, R.
;
Lerman-Sagie, T.
;
Lev, D.
;
Mazarib, A.
;
Brand, N.
;
Ben-Zeev, B.
;
Goikhman, I.
;
Singh, R.
;
Kremmidiotis, G.
;
Gardner, A.
;
Sutherland, G.
;
George Jr., A.
;
Mulley, J.
;
Berkovic, S.
2010
Timing of de novo mutagenesis - A twin study of sodium-channel mutations
Vadlamudi, L.
;
Dibbens, L.
;
Lawrence, K.
;
Iona, X.
;
McMahon, J.
;
Murrell, W.
;
Mackay-Sim, A.
;
Scheffer, I.
;
Berkovic, S.
2010
Effects of vaccination on onset and outcome of Dravet syndrome: a retrospective study
McIntosh, A.
;
McMahon, J.
;
Dibbens, L.
;
Iona, X.
;
Mulley, J.
;
Scheffer, I.
;
Berkovic, S.
Discover
Author
14
Berkovic, S.
11
Scheffer, I.
7
Mulley, J.
5
McMahon, J.
4
Gardner, A.
4
Gecz, J.
4
Heron, S.
3
Bayly, M.
3
Corbett, M.
3
Harkin, L.
.
next >
Subject
14
Humans
11
Female
9
Male
8
Nerve Tissue Proteins
7
Adult
7
Child
7
Pedigree
7
Sodium Channels
6
Infant
6
NAV1.1 Voltage-Gated Sodium Channel
.
next >
Date issued
11
2010 - 2017
5
2001 - 2009